ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.*2229A>G

gnomAD frequency: 0.01091  dbSNP: rs188412401
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000277335 SCV000393635 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332506 SCV000393636 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277335 SCV000393637 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332506 SCV000393638 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001799652 SCV002043918 likely benign not provided 2021-06-21 criteria provided, single submitter clinical testing

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